Cognitive, adaptive, and behavioral features in Joubert syndrome-Reference-Cited by-同舟云学术

Cognitive, adaptive, and behavioral features in Joubert syndrome

Published:2016-08-17 Issue:12 Volume:170 Page:3115-3124
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bulgheroni Sara¹,D'Arrigo Stefano¹,Signorini Sabrina²,Briguglio Marilena³,Di Sabato Maria Lucia⁴,Casarano Manuela⁵,Mancini Francesca⁶,Romani Marta⁶,Alfieri Paolo⁷,Battini Roberta⁵,Zoppello Marina²,Tortorella Gaetano³,Bertini Enrico⁸,Leuzzi Vincenzo⁴,Valente Enza Maria⁹¹⁰,Riva Daria¹

Affiliation:

1. Developmental Neurology Division; IRCCS Fondazione Istituto Neurologico C. Besta; Milan Italy

2. Unit of Child Neurology and Psychiatry; IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino; Pavia Italy

3. Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences; Unit of Infantile Neuropsychiatry, University of Messina; Messina Italy

4. Department of Pediatrics and Child Neurology and Psychiatry; Sapienza University of Rome; Rome Italy

5. Department of Developmental Neuroscience; IRCCS Fondazione Stella Maris; Pisa Italy

6. Neurogenetics Unit, Mendel Laboratory; IRCCS Casa Sollievo Della Sofferenza; San Giovanni Rotondo Italy

7. Unit of Child Neuropsichiatry; IRCCS Bambino Gesù Children's Hospital; Rome Italy

8. Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders; IRCCS Bambino Gesù Pediatric Hospital; Rome Italy

9. Department of Medicine and Surgery, Section of Neurosciences; University of Salerno; Salerno Italy

10. Neurogenetics Unit; IRCCS Santa Lucia Foundation; Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37938/fullpdf

Reference40 articles.

1. Joubert's syndrome. Apropos of 5 cases. Le syndrome de Joubert. A propos de cinq observations;Aicardi;Arch Fr De Pediatr,1983

2. Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity;Bachmann-Gagescu;J Med Genet,2015

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